BACKGROUND
Pathogenic variants in KCNA2 are associated with developmental and epileptic encephalopathy 32 (DEE32), but genotype-phenotype correlations remain unclear.
METHODS
Whole-exome sequencing was performed in patients with developmental delay and/or epilepsy. Previously reported KCNA2 variants were reviewed to...
Ji-Yuan Zhang, Song Su, Wan-Dong Hu et al.· Seizure· 0 citations
This case expands the spectrum of splice-altering NF1 variants and reveals a previously uncharacterized molecular mechanism underlying segmental neurofibromatosis, providing functional evidence that NF1 c.7970+4_7970+7del is a splice-disrupting variant with pathogenic relevance in the context of segmental neurofibromat...
Song Su, Hao-Chen Zou, Yin-Hua Lin et al.· Frontiers in Neuroscience· 0 citations
A pooled analysis delineates the phenotypic spectrum of ALG13-related epilepsy and emphasizes the prominence of the N107S hotspot variant, which is associated with more severe neurodevelopmental outcomes.
Song Su, Wenchao Zhang, Ying Ren et al.· Seizure· 0 citations
The findings support a possible domain‐related genotype–phenotype association for the role of ALG13 in neurodevelopmental disorders and provide additional developmental context for the role of ALG13 in neurodevelopmental disorders.
Song Su, Wandong Hu, Ying Ren et al.· Human Mutation· 0 citations
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